Vitamin C, also known as ascorbic acid, plays a pivotal role in forming blood vessels, cartilage, muscles, and collagen in bones. We report a 6-year-old non-verbal female with global developmental delay who presented with complaints of lower limb pain and inability to bear weight. Symptoms started five weeks prior to presentation and had progressed from decreased activity to complete loss of weight-bearing. Physical examination showed gingival hyperplasia, perifollicular petechiae, lower limb edema, and corkscrew hair. Initial radiologic findings raised concerns of osteomyelitis, showing bone marrow edema, periosteal reaction, and cortical irregularity. However, correlation with dietary history limited to flavored milk and yogurt and lacking fruits and vegetables, in conjunction with clinical presentation, suggested vitamin C deficiency, and she was started on ascorbic acid. Vitamin C deficiency was later confirmed on day 7 by a low C deficiency level (<0.1 mg/dL). Treatment with ascorbic acid, multivitamins, and supportive therapy led to gradual recovery, and gastrostomy tube placement facilitated supplementation. This case highlights the importance of detailed dietary history and recognition of clinical signs of vitamin C deficiency. Early dietary assessment and clinical correlation can prevent unnecessary invasive procedures and prolonged antibiotic therapy. Early identification enables timely intervention, reducing morbidity and improving quality of life.
Daswaney et al. (Tue,) studied this question.